Results 51 to 60 of about 303,737 (269)
Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays
Human GenomicsBackground TP53 variant classification benefits from the availability of large-scale functional data for missense variants generated using cDNA-based assays.
Cristina Fortuno +9 more
doaj +1 more source
Molecular Therapy: Nucleic AcidsPancreatic neuroendocrine tumors (PanNETs) comprise a heterogeneous group of tumors with growing incidence. Recent molecular analyses provided a precise picture of their genomic and epigenomic landscape. Splicing dysregulation is increasingly regarded as
Emilia Alors-Pérez +14 more
doaj +1 more source
A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing
Molecular Genetics & Genomic Medicine, 2022 Background Heterozygous KMT2B variants are a common cause of dystonia. A novel synonymous KMT2B variant, c.5073C>T (p.Gly1691=) was identified in an individual with childhood‐onset progressive dystonia.
Bianca R. Grosz +13 more
doaj +1 more source
An epithelial GPR35 isoform supports tumor‐associated transcriptional and metabolic phenotypes
FEBS Letters, EarlyView.GPR35 generates two functionally distinct isoforms with previously unresolved roles. GPR35‐short mediates immune‐cell chemotaxis, while GPR35‐long is enriched in colorectal cancer epithelium, where it supports increased metabolism, proliferation, and tumor‐associated transcriptional programs.
Jørgen D. Rønneberg +14 more
wiley +1 more source
Structural insights into lipid membrane binding by human ferlins
The EMBO JournalFerlins are ancient membrane proteins with a unique architecture, and play central roles in crucial processes that involve Ca2+-dependent vesicle fusion.
Constantin Cretu +6 more
doaj +1 more source
Structural Correlation Based Method for Image Forgery Classification and Localization
Applied Sciences, 2020 In the image forgery problems, previous works has been chiefly designed considering only one of two forgery types: copy-move and splicing. In this paper, we propose a scheme to handle both copy-move and splicing image forgery by concurrently classifying ...
Nam Thanh Pham +2 more
doaj +1 more source
Discerning protein pools by selective staining with self‐labeling tags
FEBS Letters, EarlyView.Cell surface proteins have an intra‐ and extracellular pool. Combining genetic fusion to self‐labeling tags that can be addressed with small molecule fluorophores allows separating these pools. We highlight recent developments and techniques for state‐of‐the‐art interrogation of cell surface proteins in the complex tissue setting.
Kati Fischermanns, Johannes Broichhagen
wiley +1 more source
Microbiology Spectrum[D1,2] stwintrons consist of nested U2 introns, where an internal intron splits the 5′-donor of an external intron between its first and second nucleotide.
Erzsébet Fekete +7 more
doaj +1 more source
, 2014 In the past several years, the relationship between chromatin structure and mRNA processing has been the source of significant investigation across diverse disciplines. Central to these efforts was an unanticipated nonrandom distribution of chromatin marks across transcribed regions of protein-coding genes.
Nazmul, Haque, Shalini, Oberdoerffer
openaire +3 more sources
Tumour–host interactions in Drosophila: mechanisms in the tumour micro‐ and macroenvironment
Molecular Oncology, EarlyView.This review examines how tumour–host crosstalk takes place at multiple levels of biological organisation, from local cell competition and immune crosstalk to organism‐wide metabolic and physiological collapse. Here, we integrate findings from Drosophila melanogaster studies that reveal conserved mechanisms through which tumours hijack host systems to ...
José Teles‐Reis, Tor Erik Rusten
wiley +1 more source